BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

262 related articles for article (PubMed ID: 21173099)

  • 1. Clinical and genetic aspects of Bernard-Soulier syndrome: searching for genotype/phenotype correlations.
    Savoia A; Pastore A; De Rocco D; Civaschi E; Di Stazio M; Bottega R; Melazzini F; Bozzi V; Pecci A; Magrin S; Balduini CL; Noris P
    Haematologica; 2011 Mar; 96(3):417-23. PubMed ID: 21173099
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A Novel Mutation in
    Barozzi S; Bozzi V; De Rocco D; Giangregorio T; Noris P; Savoia A; Pecci A
    Int J Mol Sci; 2021 Sep; 22(19):. PubMed ID: 34638529
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Clinical phenotype in heterozygote and biallelic Bernard-Soulier syndrome--a case control study.
    Bragadottir G; Birgisdottir ER; Gudmundsdottir BR; Hilmarsdottir B; Vidarsson B; Magnusson MK; Larsen OH; Sorensen B; Ingerslev J; Onundarson PT
    Am J Hematol; 2015 Feb; 90(2):149-55. PubMed ID: 25370924
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Bernard-Soulier syndrome.
    Berndt MC; Andrews RK
    Haematologica; 2011 Mar; 96(3):355-9. PubMed ID: 21357716
    [No Abstract]   [Full Text] [Related]  

  • 5. Molecular basis of Bernard-Soulier syndrome in 27 patients from India.
    Sumitha E; Jayandharan GR; David S; Jacob RR; Sankari Devi G; Bargavi B; Shenbagapriya S; Nair SC; Abraham A; George B; Viswabandya A; Mathews V; Chandy M; Srivastava A
    J Thromb Haemost; 2011 Aug; 9(8):1590-8. PubMed ID: 21699652
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Patients with Bernard-Soulier syndrome and different severity of the bleeding phenotype.
    Boeckelmann D; Hengartner H; Greinacher A; Nowak-Göttl U; Sachs UJ; Peter K; Sandrock-Lang K; Zieger B
    Blood Cells Mol Dis; 2017 Sep; 67():69-74. PubMed ID: 28131619
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The genetic defect in two well-studied cases of Bernard-Soulier syndrome: a point mutation in the fifth leucine-rich repeat of platelet glycoprotein Ib alpha.
    Li C; Martin SE; Roth GJ
    Blood; 1995 Nov; 86(10):3805-14. PubMed ID: 7579348
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spectrum of the mutations in Bernard-Soulier syndrome.
    Savoia A; Kunishima S; De Rocco D; Zieger B; Rand ML; Pujol-Moix N; Caliskan U; Tokgoz H; Pecci A; Noris P; Srivastava A; Ward C; Morel-Kopp MC; Alessi MC; Bellucci S; Beurrier P; de Maistre E; Favier R; Hézard N; Hurtaud-Roux MF; Latger-Cannard V; Lavenu-Bombled C; Proulle V; Meunier S; Négrier C; Nurden A; Randrianaivo H; Fabris F; Platokouki H; Rosenberg N; HadjKacem B; Heller PG; Karimi M; Balduini CL; Pastore A; Lanza F
    Hum Mutat; 2014 Sep; 35(9):1033-45. PubMed ID: 24934643
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Platelets with a W127X mutation in GPIX express sufficient residual amounts of GPIbα to support adhesion to von Willebrand factor and collagen.
    Takata Y; Kanaji T; Moroi M; Seki R; Sano M; Nakazato S; Sueoka E; Imamura Y; Okamura T
    Int J Hematol; 2012 Dec; 96(6):733-42. PubMed ID: 23143686
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Bernard-Soulier syndrome with severe bleeding: absent platelet glycoprotein Ib alpha due to a homozygous one-base deletion.
    Li C; Pasquale DN; Roth GJ
    Thromb Haemost; 1996 Nov; 76(5):670-4. PubMed ID: 8950770
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel genetic abnormalities in Bernard-Soulier syndrome in India.
    Ali S; Ghosh K; Shetty S
    Ann Hematol; 2014 Mar; 93(3):381-4. PubMed ID: 23995613
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Bernard-soulier syndrome with a homozygous 13 base pair deletion in the signal peptide-coding region of the platelet glycoprotein Ib(beta) gene.
    Watanabe R; Ishibashi T; Saitoh Y; Shichishima T; Maruyama Y; Enomoto Y; Handa M; Oda A; Ambo H; Murata M; Ikeda Y
    Blood Coagul Fibrinolysis; 2003 Jun; 14(4):387-94. PubMed ID: 12945881
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A
    Skalníková M; Staňo Kozubík K; Trizuljak J; Vrzalová Z; Radová L; Réblová K; Holbová R; Kurucová T; Svozilová H; Štika J; Blaháková I; Dvořáčková B; Prudková M; Stehlíková O; Šmída M; Křen L; Smejkal P; Pospíšilová Š; Doubek M
    Int J Mol Sci; 2022 Jan; 23(2):. PubMed ID: 35055070
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.
    Zwifelhofer NMJ; Bercovitz RS; Weik LA; Moroi A; LaRose S; Newman PJ; Newman DK
    J Thromb Haemost; 2019 Feb; 17(2):295-305. PubMed ID: 30549403
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel Bernard-Soulier syndrome variants caused by compound heterozygous mutations (case I) or a cytoplasmic tail truncation (case II) of GPIbα.
    Yamamoto N; Akamatsu N; Sakuraba H; Matsuno K; Hosoya R; Nogami H; Kasahara K; Mitsuyama S; Arai M
    Thromb Res; 2013 Apr; 131(4):e160-7. PubMed ID: 23414566
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.
    Miller JL; Lyle VA; Cunningham D
    Blood; 1992 Jan; 79(2):439-46. PubMed ID: 1730088
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?
    Boisseau P; Debord C; Eveillard M; Quéméner A; Sigaud M; Giraud M; Talarmain P; Thomas C; Landeau G; Bezieau S; Petesch BP; Béné MC; Fouassier M
    Platelets; 2018 May; 29(3):316-318. PubMed ID: 29119855
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A Novel Homozygous c.800C>G Substitution in GP1BA Exon 2 in a Kuwaiti Family with Bernard-Soulier Syndrome.
    Shlebak A; Poles A; Manning R; Almuhareb S; De La Funte J; Mitchell M; Lucas G
    Acta Haematol; 2015; 134(3):193-8. PubMed ID: 26044173
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells.
    Strassel C; David T; Eckly A; Baas MJ; Moog S; Ravanat C; Trzeciak MC; Vinciguerra C; Cazenave JP; Gachet C; Lanza F
    J Thromb Haemost; 2006 Jan; 4(1):217-28. PubMed ID: 16409472
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Bernard-Soulier syndrome caused by two novel heterozygous
    Zhang S; Ling J; Cui K; Zhan S; Zheng J; Wang W; Fan J; Hu S
    Hematology; 2024 Dec; 29(1):2334642. PubMed ID: 38564005
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.